Long noncoding RNAs in development and disease of the central nervous system

SY Ng, L Lin, BS Soh, LW Stanton - Trends in Genetics, 2013 - cell.com
The central nervous system (CNS) is a complex biological system composed of numerous
cell types working in concert. The intricate development and functioning of this highly …

Holoprosencephaly

C Dubourg, C Bendavid, L Pasquier, C Henry… - Orphanet journal of rare …, 2007 - Springer
Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete
cleavage of the prosencephalon, occurring between the 18th and the 28th day of gestation …

[HTML][HTML] Haploinsufficiency of Six3 fails to activate Sonic hedgehog expression in the ventral forebrain and causes holoprosencephaly

X Geng, C Speirs, O Lagutin, A Inbal, W Liu… - Developmental cell, 2008 - cell.com
Holoprosencephaly (HPE), the most common forebrain malformation, is characterized by an
incomplete separation of the cerebral hemispheres. Mutations in the homeobox gene SIX3 …

The six family of homeobox genes in development and cancer

KL Christensen, AN Patrick, EL McCoy… - Advances in cancer …, 2008 - Elsevier
The homeobox gene superfamily encodes transcription factors that act as master regulators
of development through their ability to activate or repress a diverse range of downstream …

New findings for phenotype–genotype correlations in a large European series of holoprosencephaly cases

S Mercier, C Dubourg, N Garcelon… - Journal of medical …, 2011 - jmg.bmj.com
Background Holoprosencephaly (HPE) is the most common forebrain defect in humans. It
results from incomplete midline cleavage of the prosencephalon. Methods A large European …

Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function

F Lacbawan, BD Solomon, E Roessler… - Journal of medical …, 2009 - jmg.bmj.com
Background: Holoprosencephaly (HPE) is the most common structural malformation of the
human forebrain. There are several important HPE mutational target genes, including the …

The EGFR-ZNF263 signaling axis silences SIX3 in glioblastoma epigenetically

Z Yu, J Feng, W Wang, Z Deng, Y Zhang, L Xiao… - Oncogene, 2020 - nature.com
The homeotic protein SIX3 is a transcription factor vital for neurogenesis and has a bivalent
promoter. We previously showed that SIX3 can be transcriptionally silenced by DNA …

Neuropathology of holoprosencephaly

P Marcorelles, A Laquerriere - American Journal of Medical …, 2010 - Wiley Online Library
Holoprosencephaly (HPE) is a brain malformation which results from a primary defect in
induction and patterning of the rostral neural tube during early embryogenesis and usually …

Six3 inactivation causes progressive caudalization and aberrant patterning of the mammalian diencephalon

A Lavado, OV Lagutin, G Oliver - 2008 - journals.biologists.com
The homeobox gene Six3 represses Wnt1 transcription. It is also required in the anterior
neural plate for the development of the mammalian rostral forebrain. We have now …

Prenatal diagnosis of holoprosencephaly

YA Kousa, AJ du Plessis… - American Journal of …, 2018 - Wiley Online Library
Holoprosencephaly is a spectrum of congenital defects of forebrain development
characterized by incomplete separation of the cerebral hemispheres. In vivo diagnosis can …